Total 245 pathogenic variants reported for Familial dysautonomia 
Variant Name Variant Type Variant Genomic Location Clinical Significance Phenotype Condition Review Status ClinGen Allele dbSNP ID Variation/condition record
NM_003640.5(ELP1):c.2204+6T>C SNV
Germline
Chr9:108899816 Pathogenic Familial dysautonomia
Condition: not provided
Charcot-Marie-Tooth disease
Medulloblastoma
not specified
Medulloblastoma
Familial dysautonomia
Primary dysautonomia
Criteria Provided
Multiple Submitters
No Conflicts
CA284834 rs_111033171

22 SubmittersRCV000006458RCV000058928RCV000789357RCV003444194RCV004018577RCV005041994RCV005357084

NM_003640.5(ELP1):c.2087G>C (p.Arg696Pro) SNV
Germline
Chr9:108900303 Pathogenic/Likely pathogenic Familial dysautonomia
Charcot-Marie-Tooth disease
Medulloblastoma
Familial dysautonomia
Condition: not provided
Criteria Provided
Multiple Submitters
No Conflicts
CA253767 rs_137853022

9 SubmittersRCV000006459RCV000789660RCV002482833RCV001380395

NM_003640.5(ELP1):c.2741C>T (p.Pro914Leu) SNV
Germline
Chr9:108894062 Likely pathogenic Familial dysautonomia
Charcot-Marie-Tooth disease
Criteria Provided
Single Submitter
CA253769 rs_28939712

3 SubmittersRCV000006460RCV000789661

NM_003640.5(ELP1):c.1230G>A (p.Pro410=) SNV
Germline
Chr9:108911140 Conflicting classifications of pathogenicity not specified
Familial dysautonomia
Condition: not provided
Criteria Provided
Conflicting Classifications
CA291214 rs_41278359

8 SubmittersRCV000125400RCV000308481RCV000857535

NM_003640.5(ELP1):c.1886G>A (p.Arg629His) SNV
Germline
Chr9:108901650 Conflicting classifications of pathogenicity Familial dysautonomia
Condition: not provided
not specified
Criteria Provided
Conflicting Classifications
CA240882 rs_148378319

9 SubmittersRCV000316773RCV000724344RCV000214808

NM_003640.5(ELP1):c.3280A>G (p.Arg1094Gly) SNV
Germline
Chr9:108882130 Conflicting classifications of pathogenicity Condition: not provided
Familial dysautonomia
not specified
Criteria Provided
Conflicting Classifications
CA5174360 rs_146440397

10 SubmittersRCV000659118RCV001166178RCV004020903

NM_003640.5(ELP1):c.2825G>A (p.Arg942Gln) SNV
Germline
Chr9:108893978 Conflicting classifications of pathogenicity Condition: not provided
Familial dysautonomia
Medulloblastoma
not specified
Criteria Provided
Conflicting Classifications
CA5174526 rs_149845612

11 SubmittersRCV000757401RCV001166669RCV002291611RCV004020902

NM_003640.5(ELP1):c.1364A>G (p.Asp455Gly) SNV
Germline
Chr9:108908401 Conflicting classifications of pathogenicity Condition: not provided
Familial dysautonomia
Medulloblastoma
not specified
ELP1-related disorder
Criteria Provided
Conflicting Classifications
CA5175034 rs_149685738

7 SubmittersRCV000227222RCV001276239RCV003230264RCV004020906RCV004751397

NM_003640.5(ELP1):c.208C>T (p.Arg70Cys) SNV
Germline
Chr9:108929864 Conflicting classifications of pathogenicity Condition: not provided
Familial dysautonomia
not specified
Criteria Provided
Conflicting Classifications
CA5175431 rs_3737311

6 SubmittersRCV000278649RCV000287654RCV004021176

NM_003640.5(ELP1):c.3474C>T (p.Pro1158=) SNV
Germline
Chr9:108879544 Conflicting classifications of pathogenicity Familial dysautonomia
Condition: not provided
not specified
ELP1-related disorder
Criteria Provided
Conflicting Classifications
CA5174285 rs_146956297

7 SubmittersRCV000384366RCV000863170RCV004022092RCV003922638

NM_003640.5(ELP1):c.3222+14C>T SNV
Germline
Chr9:108889318 Conflicting classifications of pathogenicity Familial dysautonomia
ELP1-related disorder
not specified
Condition: not provided
Criteria Provided
Conflicting Classifications
CA5174381 rs_374787755

6 SubmittersRCV000377567RCV003950291RCV000432127RCV001699403

NM_003640.5(ELP1):c.1878C>T (p.Asp626=) SNV
Germline
Chr9:108901658 Conflicting classifications of pathogenicity Familial dysautonomia
Condition: not provided
ELP1-related disorder
Criteria Provided
Conflicting Classifications
CA5174858 rs_141596257

5 SubmittersRCV000387658RCV000858502RCV003950292

NM_003640.5(ELP1):c.3869A>G (p.Asn1290Ser) SNV
Germline
Chr9:108874957 Conflicting classifications of pathogenicity Condition: not provided
Familial dysautonomia
not specified
Criteria Provided
Conflicting Classifications
CA5174147 rs_145319352

6 SubmittersRCV000757404RCV000355008RCV004022089

NM_003640.5(ELP1):c.2799G>A (p.Arg933=) SNV
Germline
Chr9:108894004 Conflicting classifications of pathogenicity Familial dysautonomia
Condition: not provided
not specified
Criteria Provided
Conflicting Classifications
CA5174535 rs_367974002

5 SubmittersRCV000390834RCV000867149RCV004022095

NM_003640.5(ELP1):c.2008T>C (p.Phe670Leu) SNV
Germline
Chr9:108901431 Conflicting classifications of pathogenicity Familial dysautonomia
Condition: not provided
not specified
Familial dysautonomia
Medulloblastoma
Criteria Provided
Conflicting Classifications
CA5174818 rs_376699949

5 SubmittersRCV000265311RCV000823514RCV005549956RCV002488817

NM_003640.5(ELP1):c.923T>C (p.Leu308Pro) SNV
Germline
Chr9:108916239 Conflicting classifications of pathogenicity Familial dysautonomia
Condition: not provided
ELP1-related disorder
Criteria Provided
Conflicting Classifications
CA5175196 rs_78135392

6 SubmittersRCV000262689RCV000755553RCV003932508

NM_003640.5(ELP1):c.169T>C (p.Leu57=) SNV
Germline
Chr9:108929903 Conflicting classifications of pathogenicity Familial dysautonomia
Condition: not provided
not specified
Criteria Provided
Conflicting Classifications
CA10628782 rs_886063349

4 SubmittersRCV000339134RCV002058764RCV004022104

NM_003640.5(ELP1):c.-155A>T SNV
Germline
Chr9:108933963 Conflicting classifications of pathogenicity Familial dysautonomia
Condition: not provided
Criteria Provided
Conflicting Classifications
CA10628783 rs_117100816

2 SubmittersRCV000356773RCV003422364

NM_003640.5(ELP1):c.3876T>G (p.Thr1292=) SNV
Germline
Chr9:108874950 Conflicting classifications of pathogenicity Familial dysautonomia
Condition: not provided
ELP1-related disorder
Criteria Provided
Conflicting Classifications
CA5174146 rs_61749202

8 SubmittersRCV000297833RCV000590763RCV003970072

NM_003640.5(ELP1):c.3513T>C (p.Ser1171=) SNV
Germline
Chr9:108879505 Conflicting classifications of pathogenicity Familial dysautonomia
not specified
Condition: not provided
Criteria Provided
Conflicting Classifications
CA5174275 rs_199617076

4 SubmittersRCV000274649RCV004022091RCV000869320

NM_003640.5(ELP1):c.1911T>C (p.Val637=) SNV
Germline
Chr9:108901528 Conflicting classifications of pathogenicity Familial dysautonomia
Condition: not provided
not specified
Criteria Provided
Conflicting Classifications
CA5174837 rs_369645371

8 SubmittersRCV000278309RCV001450077RCV004022098

NM_003640.5(ELP1):c.304-5C>T SNV
Germline
Chr9:108927458 Conflicting classifications of pathogenicity Familial dysautonomia
Condition: not provided
Criteria Provided
Conflicting Classifications
CA5175398 rs_370384351

2 SubmittersRCV000327469RCV000858401

NM_003640.5(ELP1):c.209G>A (p.Arg70His) SNV
Germline
Chr9:108929863 Conflicting classifications of pathogenicity Familial dysautonomia
Condition: not provided
Hereditary sensory and autonomic neuropathy
ELP1-related disorder
Criteria Provided
Conflicting Classifications
CA5175430 rs_111936933

6 SubmittersRCV000384303RCV000858275RCV001271221RCV003922639

NM_003640.5(ELP1):c.3931+14C>G SNV
Germline
Chr9:108874881 Conflicting classifications of pathogenicity Familial dysautonomia
Condition: not provided
Criteria Provided
Conflicting Classifications
CA10632209 rs_555520875

3 SubmittersRCV000406241RCV002061308

NM_003640.5(ELP1):c.2958+10A>T SNV
Germline
Chr9:108892976 Conflicting classifications of pathogenicity Familial dysautonomia
Condition: not provided
Criteria Provided
Conflicting Classifications
CA5174489 rs_768709875

2 SubmittersRCV000298453RCV001451072

NM_003640.5(ELP1):c.2598C>T (p.Pro866=) SNV
Germline
Chr9:108896634 Conflicting classifications of pathogenicity Familial dysautonomia
Condition: not provided
not specified
Criteria Provided
Conflicting Classifications
CA5174574 rs_773218149

5 SubmittersRCV000312657RCV001459462RCV004022096

NM_003640.5(ELP1):c.2370A>G (p.Glu790=) SNV
Germline
Chr9:108897279 Conflicting classifications of pathogenicity Familial dysautonomia
Condition: not provided
not specified
Criteria Provided
Conflicting Classifications
CA5174662 rs_772114554

4 SubmittersRCV000324095RCV001417884RCV004022097

NM_003640.5(ELP1):c.947C>T (p.Pro316Leu) SNV
Germline
Chr9:108916215 Conflicting classifications of pathogenicity Familial dysautonomia
Condition: not provided
Medulloblastoma
Familial dysautonomia
not specified
Criteria Provided
Conflicting Classifications
CA5175187 rs_374814563

7 SubmittersRCV000302687RCV000493897RCV002488820RCV003330656

NM_003640.5(ELP1):c.203G>T (p.Ser68Ile) SNV
Germline
Chr9:108929869 Conflicting classifications of pathogenicity Familial dysautonomia
Condition: not provided
not specified
Criteria Provided
Conflicting Classifications
CA5175432 rs_143723093

4 SubmittersRCV000345015RCV000863374RCV004022103

NM_003640.5(ELP1):c.2860+2T>C SNV
Germline
Chr9:108893941 Likely pathogenic Familial dysautonomia
Condition: not provided
Criteria Provided
Single Submitter
CA5174517 rs_754348901

2 SubmittersRCV000409912RCV001865258

NM_003640.5(ELP1):c.2817C>A (p.Tyr939Ter) SNV
Unknown
Chr9:108893986 Likely pathogenic Familial dysautonomia No Assertion Criteria Provided
CA5174529 rs_749052963

1 SubmittersRCV000410939

NM_003640.5(ELP1):c.2204+1G>A SNV
Germline
Chr9:108899821 Likely pathogenic Familial dysautonomia Criteria Provided
Single Submitter
CA16041295 rs_1057517169

2 SubmittersRCV000409095

NM_003640.5(ELP1):c.1213C>T (p.Arg405Trp) SNV
Germline
Chr9:108911157 Conflicting classifications of pathogenicity not specified
Hereditary sensory and autonomic neuropathy
Familial dysautonomia
Condition: not provided
Criteria Provided
Conflicting Classifications
CA5175080 rs_139703788

7 SubmittersRCV000780354RCV001276240RCV001168463RCV000630703

NM_003640.5(ELP1):c.3347-15A>G SNV
Germline
Chr9:108880180 Conflicting classifications of pathogenicity not specified
Familial dysautonomia
Condition: not provided
Criteria Provided
Conflicting Classifications
CA5174326 rs_200154542

6 SubmittersRCV000434445RCV001166177RCV001701004

NM_003640.5(ELP1):c.3346+7G>T SNV
Germline
Chr9:108881698 Conflicting classifications of pathogenicity not specified
Condition: not provided
Familial dysautonomia
Familial dysautonomia
Medulloblastoma
Criteria Provided
Conflicting Classifications
CA5174338 rs_144631706

5 SubmittersRCV000430439RCV000867472RCV001275743RCV005044639

NM_003640.5(ELP1):c.2436C>T (p.Asp812=) SNV
Germline
Chr9:108897213 Conflicting classifications of pathogenicity Condition: not provided
Familial dysautonomia
not specified
Criteria Provided
Conflicting Classifications
CA5174646 rs_113967847

5 SubmittersRCV000828356RCV001169158RCV005328295

NM_003640.5(ELP1):c.948G>A (p.Pro316=) SNV
Germline
Chr9:108916214 Conflicting classifications of pathogenicity Condition: not provided
Familial dysautonomia
not specified
Criteria Provided
Conflicting Classifications
CA5175186 rs_148917889

8 SubmittersRCV000529925RCV001168466RCV004023742

NM_003640.5(ELP1):c.650-6G>A SNV
Germline
Chr9:108918907 Conflicting classifications of pathogenicity Condition: not provided
Familial dysautonomia
not specified
Criteria Provided
Conflicting Classifications
CA5175273 rs_571466270

3 SubmittersRCV000530797RCV001271216RCV004023741

NM_003640.5(ELP1):c.1704A>G (p.Ser568=) SNV
Germline
Chr9:108903609 Conflicting classifications of pathogenicity not specified
Familial dysautonomia
Condition: not provided
Criteria Provided
Conflicting Classifications
CA5174925 rs_138192941

7 SubmittersRCV000592752RCV001166745RCV000726723

NM_003640.5(ELP1):c.1461-2A>G SNV
Germline
Chr9:108906487 Conflicting classifications of pathogenicity Familial dysautonomia
Condition: not provided
Medulloblastoma
Criteria Provided
Conflicting Classifications
CA197540498 rs_866046915

7 SubmittersRCV000668028RCV000596965RCV003989567

NM_003640.5(ELP1):c.2217A>G (p.Lys739=) SNV
Germline
Chr9:108898737 Conflicting classifications of pathogenicity Condition: not provided
Familial dysautonomia
not specified
Criteria Provided
Conflicting Classifications
CA5174728 rs_139583037

4 SubmittersRCV000593304RCV001276229RCV004024769

NM_003640.5(ELP1):c.3573-7C>G SNV
Germline
Chr9:108878757 Conflicting classifications of pathogenicity Familial dysautonomia
Condition: not provided
Criteria Provided
Conflicting Classifications
CA5174241 rs_370571926

4 SubmittersRCV000630701RCV000859237

NM_003640.5(ELP1):c.3213G>C (p.Glu1071Asp) SNV
Germline
Chr9:108889341 Conflicting classifications of pathogenicity Familial dysautonomia
Condition: not provided
not specified
Medulloblastoma
Familial dysautonomia
Criteria Provided
Conflicting Classifications
CA5174389 rs_140024352

7 SubmittersRCV000630694RCV001201381RCV004025387RCV005049622

NM_003640.5(ELP1):c.1039G>T (p.Val347Leu) SNV
Germline
Chr9:108912414 Conflicting classifications of pathogenicity Condition: not provided
Familial dysautonomia
not specified
Criteria Provided
Conflicting Classifications
CA5175144 rs_748458910

3 SubmittersRCV000630680RCV001276242RCV004025383

NM_003640.5(ELP1):c.606G>T (p.Gly202=) SNV
Germline
Chr9:108919296 Conflicting classifications of pathogenicity Condition: not provided
Familial dysautonomia
not specified
Criteria Provided
Conflicting Classifications
CA5175297 rs_768309637

6 SubmittersRCV000827122RCV001166286RCV005562401

NM_003640.5(ELP1):c.2958+1G>C SNV
Germline
Chr9:108892985 Likely pathogenic Familial dysautonomia
Condition: not provided
Criteria Provided
Single Submitter
CA374418170 rs_1239081703

2 SubmittersRCV000667505RCV001855481

NM_003640.5(ELP1):c.2014+1G>A SNV
Unknown
Chr9:108901424 Likely pathogenic Familial dysautonomia No Assertion Criteria Provided
CA374423879 rs_1554696574

1 SubmittersRCV000672450

NM_003640.5(ELP1):c.1461-1G>T SNV
Unknown
Chr9:108906486 Likely pathogenic Familial dysautonomia
Familial dysautonomia
Medulloblastoma
Criteria Provided
Single Submitter
CA374427750 rs_539544212

2 SubmittersRCV000667416RCV002493094

NM_003640.5(ELP1):c.1461-1G>A SNV
Germline
Chr9:108906486 Likely pathogenic Familial dysautonomia
Condition: not provided
Familial dysautonomia
Medulloblastoma
Criteria Provided
Multiple Submitters
No Conflicts
CA5174997 rs_539544212

3 SubmittersRCV000672968RCV002532138RCV005049651

NM_003640.5(ELP1):c.1360+1G>T SNV
Germline
Chr9:108911009 Likely pathogenic Familial dysautonomia
Condition: not provided
Criteria Provided
Single Submitter
CA374428559 rs_1201626345

2 SubmittersRCV000668411RCV003546586

NM_003640.5(ELP1):c.385+1G>A SNV
Germline
Chr9:108927371 Likely pathogenic Familial dysautonomia
Condition: not provided
Criteria Provided
Single Submitter
CA374391654 rs_1554703061

3 SubmittersRCV000674490RCV001378198

NM_003640.5(ELP1):c.151-1G>T SNV
Unknown
Chr9:108929922 Likely pathogenic Familial dysautonomia No Assertion Criteria Provided
CA374394540 rs_1554703613

1 SubmittersRCV000674659

NM_003640.5(ELP1):c.79C>T (p.Arg27Ter) SNV
Germline
Chr9:108931068 Pathogenic Familial dysautonomia
Condition: not provided
Criteria Provided
Single Submitter
CA5175472 rs_868073099

2 SubmittersRCV000667419RCV001855480

NM_003640.5(ELP1):c.4C>T (p.Arg2Ter) SNV
Germline
Chr9:108931143 Pathogenic/Likely pathogenic Familial dysautonomia
Condition: not provided
Medulloblastoma
Familial dysautonomia
Medulloblastoma
Criteria Provided
Multiple Submitters
No Conflicts
CA197531800 rs_926177767

6 SubmittersRCV000667461RCV001204091RCV003325211RCV005046868

NM_003640.5(ELP1):c.3592C>T (p.Arg1198Ter) SNV
Germline
Chr9:108878731 Pathogenic/Likely pathogenic Familial dysautonomia
Condition: not provided
Medulloblastoma
Familial dysautonomia
ELP1-related disorder
Criteria Provided
Multiple Submitters
No Conflicts
CA5174237 rs_376078668

6 SubmittersRCV000668488RCV001071602RCV002499163RCV003411577

NM_003640.5(ELP1):c.2587+2T>G SNV
Germline
Chr9:108896951 Likely pathogenic Familial dysautonomia
Condition: not provided
Criteria Provided
Single Submitter
CA374420272 rs_1554695299

2 SubmittersRCV000667504RCV003546585

NM_003640.5(ELP1):c.1908+2T>A SNV
Unknown
Chr9:108901626 Likely pathogenic Familial dysautonomia No Assertion Criteria Provided
CA374424684 rs_1554696648

1 SubmittersRCV000667502

NM_003640.5(ELP1):c.1854+1G>A SNV
Germline
Chr9:108902838 Likely pathogenic Familial dysautonomia
Medulloblastoma
Familial dysautonomia
Condition: not provided
Criteria Provided
Multiple Submitters
No Conflicts
CA374425427 rs_1554696934

3 SubmittersRCV000674672RCV002499191RCV002544672

NM_003640.5(ELP1):c.1189+1G>A SNV
Unknown
Chr9:108912263 Likely pathogenic Familial dysautonomia No Assertion Criteria Provided
CA374429227 rs_1554699327

1 SubmittersRCV000667471

NM_003640.5(ELP1):c.151-1G>A SNV
Germline
Chr9:108929922 Likely pathogenic Familial dysautonomia
Condition: not provided
Criteria Provided
Single Submitter
CA374394545 rs_1554703613

2 SubmittersRCV000668015RCV003708547

NM_003640.5(ELP1):c.3701-1G>A SNV
Germline
Chr9:108878150 Likely pathogenic Familial dysautonomia
Condition: not provided
Familial dysautonomia
Medulloblastoma
Criteria Provided
Multiple Submitters
No Conflicts
CA374410866 rs_1554691572

3 SubmittersRCV000667528RCV003767957RCV005046871

NM_003640.5(ELP1):c.2205-1G>C SNV
Germline
Chr9:108898750 Likely pathogenic Familial dysautonomia
Condition: not provided
Criteria Provided
Single Submitter
CA374422293 rs_1554695846

2 SubmittersRCV000667498RCV001861759

NM_003640.5(ELP1):c.1751-2A>T SNV
Unknown
Chr9:108902944 Likely pathogenic Familial dysautonomia No Assertion Criteria Provided
CA374425888 rs_1554697001

1 SubmittersRCV000674829

NM_003640.5(ELP1):c.1750+1G>T SNV
Unknown
Chr9:108903562 Likely pathogenic Familial dysautonomia No Assertion Criteria Provided
CA374425893 rs_770668926

1 SubmittersRCV000673955

NM_003640.5(ELP1):c.552+2T>A SNV
Germline
Chr9:108922840 Likely pathogenic Familial dysautonomia
Condition: not provided
Criteria Provided
Single Submitter
CA374389068 rs_1554702142

3 SubmittersRCV000667989RCV001216024

NM_003640.5(ELP1):c.552+1G>T SNV
Germline
Chr9:108922841 Likely pathogenic Familial dysautonomia
Condition: not provided
Criteria Provided
Single Submitter
CA5175328 rs_765572951

2 SubmittersRCV000673191RCV003768003

NM_003640.5(ELP1):c.386-2A>C SNV
Unknown
Chr9:108926605 Likely pathogenic Familial dysautonomia No Assertion Criteria Provided
CA374391512 rs_1554702880

1 SubmittersRCV000668110

NM_003640.5(ELP1):c.150+1G>A SNV
Unknown
Chr9:108930996 Likely pathogenic Familial dysautonomia No Assertion Criteria Provided
CA374394676 rs_1554703831

1 SubmittersRCV000669523

NM_003640.5(ELP1):c.3701-6C>G SNV
Germline
Chr9:108878155 Conflicting classifications of pathogenicity Familial dysautonomia
Condition: not provided
not specified
Criteria Provided
Conflicting Classifications
CA5174204 rs_148535504

4 SubmittersRCV000664986RCV001391327RCV004026077

NM_003640.5(ELP1):c.3346+1G>A SNV
Germline
Chr9:108881704 Likely pathogenic Familial dysautonomia
Condition: not provided
Criteria Provided
Single Submitter
CA5174340 rs_760774999

3 SubmittersRCV000669335RCV001056423

NM_003640.5(ELP1):c.304-2A>G SNV
Germline
Chr9:108927455 Likely pathogenic Familial dysautonomia
Condition: not provided
Familial dysautonomia
Medulloblastoma
Criteria Provided
Multiple Submitters
No Conflicts
CA5175396 rs_757972943

4 SubmittersRCV000667469RCV001379354RCV002485537

NM_003640.5(ELP1):c.1A>T (p.Met1Leu) SNV
Unknown
Chr9:108931146 Likely pathogenic Familial dysautonomia No Assertion Criteria Provided
CA374395541 rs_1554703907

1 SubmittersRCV000667495

NM_003640.5(ELP1):c.1768A>G (p.Ile590Val) SNV
Germline
Chr9:108902925 Conflicting classifications of pathogenicity Condition: not provided
Familial dysautonomia
not specified
Criteria Provided
Conflicting Classifications
CA5174904 rs_369856286

4 SubmittersRCV000698326RCV001835923RCV004026442

NM_003640.5(ELP1):c.1537G>A (p.Val513Ile) SNV
Germline
Chr9:108906409 Conflicting classifications of pathogenicity Condition: not provided
Familial dysautonomia
not specified
Criteria Provided
Conflicting Classifications
CA197540437 rs_201706900

3 SubmittersRCV000700992RCV001276237RCV005328361

NM_003640.5(ELP1):c.3325G>A (p.Val1109Ile) SNV
Germline
Chr9:108881726 Conflicting classifications of pathogenicity Familial dysautonomia
Condition: not provided
Medulloblastoma
Familial dysautonomia
not specified
Criteria Provided
Conflicting Classifications
CA5174343 rs_761896714

4 SubmittersRCV000702826RCV002536364RCV005049666RCV005550036

NM_003640.5(ELP1):c.1309A>C (p.Asn437His) SNV
Germline
Chr9:108911061 Conflicting classifications of pathogenicity Familial dysautonomia
Condition: not provided
Medulloblastoma
Familial dysautonomia
not specified
Criteria Provided
Conflicting Classifications
CA5175059 rs_148609833

7 SubmittersRCV000796780RCV002534609RCV002495051RCV004027574

NM_003640.5(ELP1):c.3572+1G>A SNV
Germline
Chr9:108879445 Likely pathogenic Familial dysautonomia
Condition: not provided
Familial dysautonomia
Medulloblastoma
Criteria Provided
Multiple Submitters
No Conflicts
CA197520261 rs_571348995

4 SubmittersRCV000806459RCV001377355RCV005049700

NM_003640.5(ELP1):c.2026G>A (p.Gly676Ser) SNV
Germline
Chr9:108900364 Conflicting classifications of pathogenicity Condition: not provided
Familial dysautonomia
not specified
Criteria Provided
Conflicting Classifications
CA5174792 rs_537930129

5 SubmittersRCV000863776RCV001169160RCV004027602

NM_003640.5(ELP1):c.2769A>G (p.Thr923=) SNV
Germline
Chr9:108894034 Conflicting classifications of pathogenicity Condition: not provided
Familial dysautonomia
Criteria Provided
Conflicting Classifications
CA5174542 rs_370330097

3 SubmittersRCV000870786RCV001168404

NM_003640.5(ELP1):c.1914G>A (p.Ala638=) SNV
Germline
Chr9:108901525 Conflicting classifications of pathogenicity Condition: not provided
Familial dysautonomia
not specified
Criteria Provided
Conflicting Classifications
CA5174835 rs_142096497

4 SubmittersRCV000867920RCV001563846RCV004027708

NM_003640.5(ELP1):c.3441A>G (p.Gln1147=) SNV
Germline
Chr9:108880071 Conflicting classifications of pathogenicity Condition: not provided
Familial dysautonomia
Criteria Provided
Conflicting Classifications
CA5174311 rs_779796058

3 SubmittersRCV000873503RCV001169094

NM_003640.5(ELP1):c.717A>C (p.Gly239=) SNV
Germline
Chr9:108918834 Conflicting classifications of pathogenicity Condition: not provided
Familial dysautonomia
Criteria Provided
Conflicting Classifications
CA466668859 rs_1333495798

2 SubmittersRCV000875057RCV001169196

NM_003640.5(ELP1):c.959-8C>T SNV
Germline
Chr9:108912502 Conflicting classifications of pathogenicity Condition: not provided
Familial dysautonomia
Criteria Provided
Conflicting Classifications
CA5175157 rs_766511916

3 SubmittersRCV000936966RCV001168465

NM_003640.5(ELP1):c.2824C>T (p.Arg942Ter) SNV
Germline
Chr9:108893979 Pathogenic/Likely pathogenic Condition: not provided
Medulloblastoma
Familial dysautonomia
Medulloblastoma
not specified
Criteria Provided
Multiple Submitters
No Conflicts
CA5174528 rs_761911009

4 SubmittersRCV001052645RCV002505601RCV003444766RCV004031649

NM_003640.5(ELP1):c.3144C>T (p.Leu1048=) SNV
Germline
Chr9:108891219 Conflicting classifications of pathogenicity Familial dysautonomia
Condition: not provided
Criteria Provided
Conflicting Classifications
CA5174428 rs_764867856

2 SubmittersRCV001166667RCV002067812

NM_003640.5(ELP1):c.1957T>C (p.Leu653=) SNV
Germline
Chr9:108901482 Conflicting classifications of pathogenicity Familial dysautonomia
Condition: not provided
not specified
Criteria Provided
Conflicting Classifications
CA5174828 rs_542412132

4 SubmittersRCV001166230RCV001521094RCV004032885

NM_003640.5(ELP1):c.3572+12A>T SNV
Germline
Chr9:108879434 Conflicting classifications of pathogenicity Familial dysautonomia
Condition: not provided
Criteria Provided
Conflicting Classifications
CA197520229 rs_1055164302

2 SubmittersRCV001169093RCV002558676

NM_003640.5(ELP1):c.2861-12T>G SNV
Germline
Chr9:108893095 Conflicting classifications of pathogenicity Familial dysautonomia
Condition: not provided
Medulloblastoma
Familial dysautonomia
Criteria Provided
Conflicting Classifications
CA5174506 rs_746590157

3 SubmittersRCV001166668RCV003737014RCV002491479

NM_003640.5(ELP1):c.2502-13C>T SNV
Germline
Chr9:108897051 Conflicting classifications of pathogenicity Familial dysautonomia
Condition: not provided
Criteria Provided
Conflicting Classifications
CA5174617 rs_138510668

2 SubmittersRCV001168405RCV003769820

NM_003640.5(ELP1):c.649+12T>C SNV
Germline
Chr9:108919241 Conflicting classifications of pathogenicity Familial dysautonomia
Condition: not provided
Criteria Provided
Conflicting Classifications
CA5175288 rs_375554772

2 SubmittersRCV001169197RCV002067832

NM_003640.5(ELP1):c.3572+5G>A SNV
Germline
Chr9:108879441 Conflicting classifications of pathogenicity not specified
Condition: not provided
Familial dysautonomia
Familial dysautonomia
Medulloblastoma
Criteria Provided
Conflicting Classifications
CA5174262 rs_773132143

6 SubmittersRCV001194428RCV001220783RCV001833753RCV002504221

NM_003640.5(ELP1):c.3790C>T (p.Gln1264Ter) SNV
Germline
Chr9:108878060 Pathogenic/Likely pathogenic Condition: not provided
Medulloblastoma
Medulloblastoma
Familial dysautonomia
Criteria Provided
Multiple Submitters
No Conflicts
CA374410662 rs_1827767235

3 SubmittersRCV001214239RCV002290642RCV002504257

NM_003640.5(ELP1):c.2015-2A>G SNV
Germline
Chr9:108900377 Likely pathogenic Condition: not provided
Familial dysautonomia
Criteria Provided
Single Submitter
CA374423584 rs_1828729991

2 SubmittersRCV001213501RCV005614497

NM_003640.5(ELP1):c.1735T>C (p.Phe579Leu) SNV
Germline
Chr9:108903578 Conflicting classifications of pathogenicity Condition: not provided
not specified
Familial dysautonomia
Medulloblastoma
Criteria Provided
Conflicting Classifications
CA5174920 rs_199555804

3 SubmittersRCV001239109RCV004907690RCV002499392

NM_003640.5(ELP1):c.2374G>A (p.Val792Ile) SNV
Germline
Chr9:108897275 Conflicting classifications of pathogenicity Familial dysautonomia
Medulloblastoma
Familial dysautonomia
Condition: not provided
not specified
Criteria Provided
Conflicting Classifications
CA197533297 rs_546587836

4 SubmittersRCV001278709RCV002480903RCV002541690RCV004035474

NM_003640.5(ELP1):c.3855+2T>G SNV
Germline
Chr9:108877993 Likely pathogenic Condition: not provided
Familial dysautonomia
Criteria Provided
Single Submitter
CA374410514 rs_2118933859

2 SubmittersRCV001379773RCV001826155

NM_003640.5(ELP1):c.3460+1G>A SNV
Germline
Chr9:108880051 Likely pathogenic Familial dysautonomia
Condition: not provided
Familial dysautonomia
Medulloblastoma
Criteria Provided
Multiple Submitters
No Conflicts
CA374412063 rs_1478450302

3 SubmittersRCV001826136RCV001378128RCV005050363

NM_003640.5(ELP1):c.959-1G>A SNV
Germline
Chr9:108912495 Likely pathogenic Familial dysautonomia
Condition: not provided
Criteria Provided
Single Submitter
CA374429725 rs_2132017099

2 SubmittersRCV001826143RCV001378603

NM_003640.5(ELP1):c.737G>A (p.Trp246Ter) SNV
Germline
Chr9:108918814 Pathogenic/Likely pathogenic Condition: not provided
Familial dysautonomia
Medulloblastoma
Familial dysautonomia
Criteria Provided
Multiple Submitters
No Conflicts
CA374386655 rs_1317221906

3 SubmittersRCV001388056RCV004017831RCV005040263

NM_003640.5(ELP1):c.572G>A (p.Trp191Ter) SNV
Germline
Chr9:108919330 Pathogenic/Likely pathogenic Condition: not provided
Familial dysautonomia
Criteria Provided
Multiple Submitters
No Conflicts
CA374388632 rs_1829561209

2 SubmittersRCV001381430RCV002282535

NM_003640.5(ELP1):c.307G>T (p.Glu103Ter) SNV
Germline
Chr9:108927450 Pathogenic/Likely pathogenic Condition: not provided
Medulloblastoma
Familial dysautonomia
Criteria Provided
Multiple Submitters
No Conflicts
CA374392194 rs_2132045613

2 SubmittersRCV001387861RCV005040262

NM_003640.5(ELP1):c.3461-8T>C SNV
Germline
Chr9:108879565 Conflicting classifications of pathogenicity Condition: not provided
Familial dysautonomia
Medulloblastoma
Criteria Provided
Conflicting Classifications
CA5174288 rs_778083125

2 SubmittersRCV001429967RCV005040280

NM_003640.5(ELP1):c.2205-9T>G SNV
Germline
Chr9:108898758 Conflicting classifications of pathogenicity Condition: not provided
Familial dysautonomia
Medulloblastoma
Criteria Provided
Conflicting Classifications
CA5174732 rs_762448047

2 SubmittersRCV001503645RCV005050384

NM_003640.5(ELP1):c.93G>T (p.Gly31=) SNV
Germline
Chr9:108931054 Conflicting classifications of pathogenicity Condition: not provided
Medulloblastoma
Familial dysautonomia
Medulloblastoma
Criteria Provided
Conflicting Classifications
CA5175468 rs_778404648

4 SubmittersRCV001816511RCV005055174RCV005040393

NM_003640.5(ELP1):c.3573-1G>A SNV
Germline
Chr9:108878751 Likely pathogenic Condition: not provided
Familial dysautonomia
Criteria Provided
Single Submitter
CA374411491 rs_2118936334

2 SubmittersRCV001977997RCV005614744

NM_003640.5(ELP1):c.2295A>T (p.Gly765=) SNV
Germline
Chr9:108898570 Conflicting classifications of pathogenicity Condition: not provided
Familial dysautonomia
Medulloblastoma
Criteria Provided
Conflicting Classifications
CA5174698 rs_137874743

2 SubmittersRCV001934243RCV002484686

NM_003640.5(ELP1):c.3595A>T (p.Lys1199Ter) SNV
Germline
Chr9:108878728 Pathogenic/Likely pathogenic Condition: not provided
Medulloblastoma
Familial dysautonomia
Criteria Provided
Multiple Submitters
No Conflicts
CA5174234 rs_762224071

2 SubmittersRCV001960589RCV002492122

NM_003640.5(ELP1):c.2363+14A>G SNV
Germline
Chr9:108898488 Conflicting classifications of pathogenicity Condition: not provided
Medulloblastoma
Familial dysautonomia
Criteria Provided
Conflicting Classifications
CA2573143762 rs_2131984488

2 SubmittersRCV002030301RCV005042644

NM_003640.5(ELP1):c.3343G>T (p.Glu1115Ter) SNV
Germline
Chr9:108881708 Pathogenic Condition: not provided
Familial dysautonomia
Criteria Provided
Multiple Submitters
No Conflicts
CA197522172 rs_906880093

2 SubmittersRCV001952594RCV002271702

NM_003640.5(ELP1):c.3542A>G (p.Lys1181Arg) SNV
Germline
Chr9:108879476 Conflicting classifications of pathogenicity Condition: not provided
Familial dysautonomia
Medulloblastoma
not specified
Criteria Provided
Conflicting Classifications
CA5174269 rs_367582146

4 SubmittersRCV001908956RCV002503546RCV003323946

NM_003640.5(ELP1):c.2020C>T (p.Gln674Ter) SNV
Germline
Chr9:108900370 Pathogenic/Likely pathogenic Condition: not provided
Familial dysautonomia
Medulloblastoma
Criteria Provided
Multiple Submitters
No Conflicts
CA374423567 rs_2131988821

2 SubmittersRCV001907618RCV005040433

NM_003640.5(ELP1):c.1361-1G>T SNV
Germline
Chr9:108908405 Pathogenic/Likely pathogenic Condition: not provided
Medulloblastoma
Familial dysautonomia
Criteria Provided
Multiple Submitters
No Conflicts
CA197541750 rs_372225464

2 SubmittersRCV001951463RCV002507707

NM_003640.5(ELP1):c.2014+18A>G SNV
Germline
Chr9:108901407 Conflicting classifications of pathogenicity Condition: not provided
Medulloblastoma
Familial dysautonomia
Criteria Provided
Conflicting Classifications
CA1127937575 rs_1828800296

2 SubmittersRCV002126244RCV005042741

NM_003640.5(ELP1):c.740+1G>T SNV
Germline
Chr9:108918810 Likely pathogenic Familial dysautonomia Criteria Provided
Single Submitter
CA374386631 rs_763719304

1 SubmittersRCV002302502

NM_003640.5(ELP1):c.2930T>A (p.Leu977Ter) SNV
Unknown
Chr9:108893014 Likely pathogenic Familial dysautonomia Criteria Provided
Single Submitter
CA374418290 rs_2537882308

1 SubmittersRCV002306519

NM_003640.5(ELP1):c.882G>A (p.Trp294Ter) SNV
Germline
Chr9:108916280 Pathogenic/Likely pathogenic Familial dysautonomia
not specified
Criteria Provided
Multiple Submitters
No Conflicts
CA374385457 rs_2537936552

3 SubmittersRCV002306569RCV004047731

NM_003640.5(ELP1):c.3502G>T (p.Glu1168Ter) SNV
Unknown
Chr9:108879516 Likely pathogenic Familial dysautonomia Criteria Provided
Single Submitter
CA374411870 rs_1827833640

1 SubmittersRCV002306605

NM_003640.5(ELP1):c.984T>A (p.Tyr328Ter) SNV
Unknown
Chr9:108912469 Likely pathogenic Familial dysautonomia Criteria Provided
Single Submitter
CA374429666 rs_2537926785

1 SubmittersRCV002306728

NM_003640.5(ELP1):c.1835T>A (p.Leu612Ter) SNV
Unknown
Chr9:108902858 Likely pathogenic Familial dysautonomia Criteria Provided
Single Submitter
CA374425514 rs_2537905523

1 SubmittersRCV002306803

NM_003640.5(ELP1):c.2584C>T (p.Gln862Ter) SNV
Unknown
Chr9:108896956 Likely pathogenic Familial dysautonomia Criteria Provided
Single Submitter
CA374420300 rs_2537890305

1 SubmittersRCV002309618

NM_003640.5(ELP1):c.496A>T (p.Lys166Ter) SNV
Unknown
Chr9:108922898 Likely pathogenic Familial dysautonomia Criteria Provided
Single Submitter
CA374389439 rs_2537949878

1 SubmittersRCV002309967

NM_003640.5(ELP1):c.529C>T (p.Gln177Ter) SNV
Unknown
Chr9:108922865 Likely pathogenic Familial dysautonomia Criteria Provided
Single Submitter
CA374389220 rs_2537949763

1 SubmittersRCV002308092

NM_003640.5(ELP1):c.639C>A (p.Cys213Ter) SNV
Unknown
Chr9:108919263 Likely pathogenic Familial dysautonomia Criteria Provided
Single Submitter
CA374387343 rs_1829557292

1 SubmittersRCV002309182

NM_003640.5(ELP1):c.2281A>T (p.Lys761Ter) SNV
Unknown
Chr9:108898673 Likely pathogenic Familial dysautonomia Criteria Provided
Single Submitter
CA374422013 rs_1003255472

1 SubmittersRCV002309235

NM_003640.5(ELP1):c.3719T>G (p.Leu1240Ter) SNV
Unknown
Chr9:108878131 Likely pathogenic Familial dysautonomia Criteria Provided
Single Submitter
CA374410817 rs_2537855098

1 SubmittersRCV002306998

NM_003640.5(ELP1):c.1027A>T (p.Lys343Ter) SNV
Unknown
Chr9:108912426 Likely pathogenic Familial dysautonomia Criteria Provided
Single Submitter
CA374429567 rs_2537926622

1 SubmittersRCV002307285

NM_003640.5(ELP1):c.1955T>A (p.Leu652Ter) SNV
Unknown
Chr9:108901484 Likely pathogenic Familial dysautonomia Criteria Provided
Single Submitter
CA374424296 rs_2537902464

1 SubmittersRCV002310412

NM_003640.5(ELP1):c.1113T>A (p.Tyr371Ter) SNV
Unknown
Chr9:108912340 Likely pathogenic Familial dysautonomia Criteria Provided
Single Submitter
CA374429390 rs_1274989641

1 SubmittersRCV002310565

NM_003640.5(ELP1):c.1780A>T (p.Lys594Ter) SNV
Unknown
Chr9:108902913 Likely pathogenic Familial dysautonomia Criteria Provided
Single Submitter
CA374425821 rs_2537905821

1 SubmittersRCV002308384

NM_003640.5(ELP1):c.676C>T (p.Arg226Ter) SNV
Germline
Chr9:108918875 Pathogenic/Likely pathogenic Condition: not provided
Familial dysautonomia
Medulloblastoma
Criteria Provided
Multiple Submitters
No Conflicts
CA5175267 rs_748449813

2 SubmittersRCV003088052RCV005045275

NM_003640.5(ELP1):c.1249C>T (p.Gln417Ter) SNV
Germline
Chr9:108911121 Pathogenic/Likely pathogenic Condition: not provided
Medulloblastoma
Familial dysautonomia
Criteria Provided
Multiple Submitters
No Conflicts
CA374429033 rs_1301344134

2 SubmittersRCV002573116RCV005042874

NM_003640.5(ELP1):c.814G>T (p.Gly272Ter) SNV
Germline
Chr9:108917597 Pathogenic/Likely pathogenic Condition: not provided
Familial dysautonomia
Criteria Provided
Multiple Submitters
No Conflicts
CA374386257 rs_1339594475

2 SubmittersRCV002866887RCV004017950

NM_003640.5(ELP1):c.649+13A>T SNV
Germline
Chr9:108919240 Conflicting classifications of pathogenicity Condition: not provided
Medulloblastoma
Familial dysautonomia
Criteria Provided
Conflicting Classifications
CA1127940613 rs_1829556476

2 SubmittersRCV002885893RCV005045027

NM_003640.5(ELP1):c.553-1G>A SNV
Germline
Chr9:108919350 Likely pathogenic Condition: not provided
Familial dysautonomia
Medulloblastoma
Criteria Provided
Multiple Submitters
No Conflicts
CA374388780 rs_2537943745

2 SubmittersRCV003659938RCV005047720

NM_003640.5(ELP1):c.746C>G (p.Ser249Ter) SNV
Germline
Chr9:108917665 Pathogenic/Likely pathogenic Condition: not provided
Familial dysautonomia
Medulloblastoma
Criteria Provided
Multiple Submitters
No Conflicts
CA374386518 rs_2537939949

2 SubmittersRCV003715464RCV005051367

NM_003640.5(ELP1):c.505C>T (p.Gln169Ter) SNV
Germline
Chr9:108922889 Pathogenic/Likely pathogenic Condition: not provided
Medulloblastoma
Familial dysautonomia
Criteria Provided
Multiple Submitters
No Conflicts
CA374389375 rs_755319650

2 SubmittersRCV003873786RCV005051411

NM_003640.5(ELP1):c.738G>A (p.Trp246Ter) SNV
Germline
Chr9:108918813 Pathogenic/Likely pathogenic Condition: not provided
Medulloblastoma
Familial dysautonomia
Criteria Provided
Multiple Submitters
No Conflicts
CA374386647 rs_2537942231

2 SubmittersRCV003880356RCV005040609

NM_003640.5(ELP1):c.3855+2T>A SNV
Germline
Chr9:108877993 Likely pathogenic Familial dysautonomia
Medulloblastoma
Familial dysautonomia
Criteria Provided
Multiple Submitters
No Conflicts
rs_2118933859

2 SubmittersRCV005040703RCV004587996

NM_003640.5(ELP1):c.1909-2A>G SNV
Germline
Chr9:108901532 Likely pathogenic Familial dysautonomia Criteria Provided
Single Submitter

1 SubmittersRCV004702755

NM_003640.5(ELP1):c.3349C>T (p.Gln1117Ter) SNV
Germline
Chr9:108880163 Likely pathogenic Medulloblastoma
Familial dysautonomia
Criteria Provided
Single Submitter

1 SubmittersRCV005043663

NM_003640.5(ELP1):c.2345T>A (p.Leu782Ter) SNV
Germline
Chr9:108898520 Likely pathogenic Medulloblastoma
Familial dysautonomia
Criteria Provided
Single Submitter

1 SubmittersRCV005043688

NM_003640.5(ELP1):c.2205-1G>A SNV
Germline
Chr9:108898750 Likely pathogenic Medulloblastoma
Familial dysautonomia
Criteria Provided
Single Submitter

1 SubmittersRCV005043689

NM_003640.5(ELP1):c.1909-1G>T SNV
Germline
Chr9:108901531 Likely pathogenic Medulloblastoma
Familial dysautonomia
Criteria Provided
Single Submitter

1 SubmittersRCV005043695

NM_003640.5(ELP1):c.1855-1G>C SNV
Germline
Chr9:108901682 Likely pathogenic Medulloblastoma
Familial dysautonomia
Criteria Provided
Single Submitter

1 SubmittersRCV005043697

NM_003640.5(ELP1):c.1751-2A>G SNV
Germline
Chr9:108902944 Likely pathogenic Medulloblastoma
Familial dysautonomia
Criteria Provided
Single Submitter

1 SubmittersRCV005043698

NM_003640.5(ELP1):c.1749G>A (p.Trp583Ter) SNV
Germline
Chr9:108903564 Likely pathogenic Medulloblastoma
Familial dysautonomia
Criteria Provided
Single Submitter

1 SubmittersRCV005048868

NM_003640.5(ELP1):c.826G>T (p.Gly276Ter) SNV
Germline
Chr9:108917585 Likely pathogenic Medulloblastoma
Familial dysautonomia
Criteria Provided
Single Submitter

1 SubmittersRCV005048871

NM_003640.5(ELP1):c.552+1G>A SNV
Germline
Chr9:108922841 Likely pathogenic Medulloblastoma
Familial dysautonomia
Criteria Provided
Single Submitter

1 SubmittersRCV005043728

NM_003640.5(ELP1):c.448C>T (p.Gln150Ter) SNV
Germline
Chr9:108926541 Likely pathogenic Medulloblastoma
Familial dysautonomia
Criteria Provided
Single Submitter

1 SubmittersRCV005043730

NM_003640.5(ELP1):c.433G>T (p.Glu145Ter) SNV
Germline
Chr9:108926556 Likely pathogenic Medulloblastoma
Familial dysautonomia
Criteria Provided
Single Submitter

1 SubmittersRCV005048877

NM_003640.5(ELP1):c.298C>T (p.Gln100Ter) SNV
Germline
Chr9:108929774 Likely pathogenic Medulloblastoma
Familial dysautonomia
Criteria Provided
Single Submitter

1 SubmittersRCV005043735

NM_003640.5(ELP1):c.223C>T (p.Gln75Ter) SNV
Germline
Chr9:108929849 Likely pathogenic Medulloblastoma
Familial dysautonomia
Criteria Provided
Single Submitter

1 SubmittersRCV005048879

NM_003640.5(ELP1):c.3700+2T>C SNV
Germline
Chr9:108878621 Likely pathogenic Familial dysautonomia No Assertion Criteria Provided

1 SubmittersRCV005617530

NM_003640.5(ELP1):c.3578C>G (p.Ser1193Ter) SNV
Germline
Chr9:108878745 Likely pathogenic Familial dysautonomia No Assertion Criteria Provided

1 SubmittersRCV005617553

NM_003640.5(ELP1):c.649+1G>C SNV
Germline
Chr9:108919252 Likely pathogenic Familial dysautonomia No Assertion Criteria Provided

1 SubmittersRCV005617554

NM_003640.5(ELP1):c.2074G>T (p.Glu692Ter) SNV
Germline
Chr9:108900316 Likely pathogenic Familial dysautonomia No Assertion Criteria Provided

1 SubmittersRCV005617556

NM_003640.5(ELP1):c.391C>T (p.Gln131Ter) SNV
Germline
Chr9:108926598 Likely pathogenic Familial dysautonomia No Assertion Criteria Provided

1 SubmittersRCV005617585

NM_003640.5(ELP1):c.285C>A (p.Cys95Ter) SNV
Germline
Chr9:108929787 Likely pathogenic Familial dysautonomia No Assertion Criteria Provided

1 SubmittersRCV005617590

NM_003640.5(ELP1):c.1854+1G>T SNV
Germline
Chr9:108902838 Likely pathogenic Familial dysautonomia No Assertion Criteria Provided

1 SubmittersRCV005617600

NM_003640.5(ELP1):c.3573-2A>T SNV
Germline
Chr9:108878752 Likely pathogenic Familial dysautonomia No Assertion Criteria Provided

1 SubmittersRCV005617607

NM_003640.5(ELP1):c.3445C>T (p.Gln1149Ter) SNV
Germline
Chr9:108880067 Likely pathogenic Familial dysautonomia No Assertion Criteria Provided

1 SubmittersRCV005617618

NM_003640.5(ELP1):c.741-1G>C SNV
Germline
Chr9:108917671 Likely pathogenic Familial dysautonomia No Assertion Criteria Provided

1 SubmittersRCV005617645

NM_003640.5(ELP1):c.3838C>T (p.Gln1280Ter) SNV
Germline
Chr9:108878012 Likely pathogenic Familial dysautonomia No Assertion Criteria Provided

1 SubmittersRCV005617674

NM_003640.5(ELP1):c.1748G>A (p.Trp583Ter) SNV
Germline
Chr9:108903565 Likely pathogenic Familial dysautonomia No Assertion Criteria Provided

1 SubmittersRCV005617684